A 7-Year-Old Girl With Hypertrophic Cardiomyopathy and Progressive Scoliosis

We report a 7 year old girl who was evaluated for progressive thoracolumbar scoliosis and hypertrophic cardiomyopathy. Neurological examination was found to be abnormal and significant for absent reflexes and weakness distally in lower extremities and positive Romberg sign. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Frataxin levels were low at 3ng/mL. Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal>67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis. A review of Friedreich ataxia is provided in the case report.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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Conclusions: Alignment in the sagittal plane is a unique challenge facing surgeons for patients with AIS. Further research with an assessment of functional outcomes and longer follow-up is needed to more precisely guide treatment principles. Level of Evidence: Level IV.
Source: Journal of Spinal Disorders and Techniques - Category: Surgery Tags: Narrative Review Source Type: research
Study Design: This was a retrospective comparative study. Objective: To evaluate long-term outcomes of selective thoracic fusion (STF) using both rod derotation (RD) and direct vertebral rotation (DVR) with pedicle screw instrumentation (PSI) in the treatment of thoracic adolescent idiopathic scoliosis (AIS) with a minimum 10-year follow-up. Summary of Background Data: Postoperative compensation and maintenance of the unfused lumbar curve after STF is very important factor for the satisfactory results in the treatment of thoracic AIS. Patients and Methods: Sixty-five patients with thoracic AIS treated with STF f...
Source: Journal of Spinal Disorders and Techniques - Category: Surgery Tags: Primary Research Source Type: research
Authors: Zaki-Dizaji M, Tajdini M, Kiaee F, Shojaaldini H, Badv RS, Abolhassani H, Aghamohammadi A Abstract Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with A-T and recently, dystonia, an extrapyramidal movement disorder. Here, we report the case of a 10-year-old girl who had experienced repeated diarrhea and mild gait ataxia since the age of two years. At age seven, ata...
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
AbstractAimsLong ‐term treatment effect studies in large female Fabry patient groups are challenging to design because of phenotype heterogeneity and lack of appropriate comparison groups, and have not been reported. We compared long‐term cardiomyopathy and kidney function outcomes after agalsidase beta treatmen t with preceding treatment‐naive outcomes.Methods and resultsSelf ‐controlled pretreatment and post‐treatment comparison (piecewise mixed linear modelling) included Fabry female patients ≥18 years at treatment initiation who received agalsidase beta (0.9–1.1 mg/kg every other week) for ...
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Original Research Article Source Type: research
We present a case of double ‐chambered right ventricle (DCRV) complicated by hypertrophic obstructive cardiomyopathy (HOCM) inKRAS mutation ‐associated Noonan syndrome. The diagnosis was incidental and made during diagnostic testing for an intradural extramedullary tumour. Spinal compression, if not surgically treated, may cause paralysis of the extremities. We decided to pursue pharmacological therapy to control biventricular obstruc tions and reduce the perioperative complication rate. We initiated treatment with cibenzoline and bisoprolol; the doses were titrated according to the response. After 2 weeks, the peak pr...
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
Authors: Kim D, Shim CY, Hong GR, Chang BC PMID: 32096357 [PubMed - as supplied by publisher]
Source: Korean Circulation Journal - Category: Cardiology Tags: Korean Circ J Source Type: research
Authors: Kim JH PMID: 32097998 [PubMed - in process]
Source: Diabetes and Metabolism Journal - Category: Endocrinology Tags: Diabetes Metab J Source Type: research
Authors: Gollmer J, Zirlik A, Bugger H Abstract Mitochondrial medicine is increasingly discussed as a promising therapeutic approach, given that mitochondrial defects are thought to contribute to many prevalent diseases and their complications. In individuals with diabetes mellitus (DM), defects in mitochondrial structure and function occur in many organs throughout the body, contributing both to the pathogenesis of DM and complications of DM. Diabetic cardiomyopathy (DbCM) is increasingly recognized as an underlying cause of increased heart failure in DM, and several mitochondrial mechanisms have been proposed to ...
Source: Diabetes and Metabolism Journal - Category: Endocrinology Tags: Diabetes Metab J Source Type: research
This study consists of 53 patients with preoperative moderate or greater MR associated with systolic anterior motion who underwent isolated SM with or without mitral intervention. Patients were divided into those who underwent SM by a dedicated myectomy surgeon (group D,n = 31) or by a non-dedicated surgeon (group ND,n = 22). Primary outcome of interest was rate of mitral valve replacement (MVR) at SM. Secondary outcomes include in-hospital mortality, need for permanent pacemaker, mitral valve reoperation, and residual MR and left ventricular outflow tract gradient on postoperative echocardiogra...
Source: General Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
In this study, the CGG repeats in the FMR1 gene were studied in 449 males and 207 females using traditional polymerase chain reaction and triplet repeat primed PCR methods, also 18 CVS samples (six males and 12 females) were tested for prenatal diagnosis. Further, methylation sensitive multiplexed ligation dependent probe amplification was performed on some samples to confirm the results. Regarding the male patients, 1.1% and 9.7% had premutation (PM) and full mutation (FM) alleles, respectively. Also three (0.66%) male patients were mosaic for PM and FM alleles. Among females, 1.9% were GZ carriers and 5.8% were PM carrie...
Source: Journal of Genetics - Category: Genetics & Stem Cells Authors: Tags: J Genet Source Type: research
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